Results 111 to 120 of about 1,770 (187)

Bone mineral density in two children with Morquio syndrome

, 2000
We report on two children with Morquio syndrome presentivng a severely rediced bone mineral density at the dual X-ray ...
Rigante, Donato
core  

Comprehensive behavioral and biochemical outcomes of novel murine models of GM1-gangliosidosis and Morquio syndrome type B

, 2019
Deficiencies in the lysosomal hydrolase β-galactosidase (β-gal) lead to two distinct diseases: the skeletal disease Morquio syndrome type B, and the neurodegenerative disease GM1-gangliosidosis.
Przybilla, Michael J, Ou, Li, Kell, Pamela J, Ory, Daniel S, Jiang, Xuntian, Sidhu, Rohini, Tăbăran, Alexandru-Flaviu, O\u27Sullivan, M Gerard, Whitley, Chester B   +8 more
core   +1 more source

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants. [PDF]

Hum Mutat, 2021
Zanetti A, D'Avanzo F, AlSayed M, Brusius-Facchin AC, Chien YH, Giugliani R, Izzo E, Kasper DC, Kasper DC, Lin HY, Lin SP, Pollard L, Singh A, Tonin R, Tonin R, Wood T, Morrone A, Tomanin R.   +17 more
europepmc   +1 more source

Cervical Cord Decompression and Posterior Cervical Immobilization Following Anterior C1-C2 Subluxation in a Patient with MPS Type IV (Morquio Syndrome) : A Team Approach

Siriraj Medical Journal, 2003
We report a 23 month old gril who presented with right hemiparesis after falling for 6 months. She was also diagnosed with mucopolysaccharidosis type IV (Morquio syndrome) with C1-C2 subluxation.
Suwannee Suraseranivongse, Pornswan Wasant, Achara Sathienkijkanchai, Surin Thanapipatsiri   +3 more
doaj  

Síndrome de Morquio.: A propósito de un caso.

, 2010
We present a case of a Morquio syndrome, it is a disease transmitted by inheritance autosomic recessive, is systemic disease, mainly affects cartilage, clinically there is deficiency of Galactose-6-sulfatase and beta-galactosidase enzymes, clinically is ...
Álvarez Soler, Jaime, Álvarez-Soler, Jaime, Meza, Ivonne Alejandra   +2 more
core  

Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome

, 2015
Objectives: Baseline data from the Morquio A Clinical Assessment Program (MorCAP) revealed that individuals with Morquio A syndrome show substantial impairment in multiple domains including endurance and respiratory function (Harmatz et al., Mol Genet ...
Jones, Simon A., Slasor, Peter, Guelbert, Norberto, Mengel, Karl Eugen, Harmatz, Paul R., Hendriksz, Christian J., Mitchell, John J., Parini, Rossella, Martins, Ana Maria, Giugliani, Roberto, Yang, Ke, Guffon, Nathalie, Decker, Celeste, Valayannopoulos, Vassili, Lin, Shuan-Pei, Burton, Barbara K., Martins, Ana Maria [UNIFESP], Wijburg, Frits A., Vellodi, Ashok   +18 more
core   +1 more source

Oral immunotherapy tolerizes mice to enzyme replacement therapy for Morquio A syndrome. [PDF]

J Clin Invest, 2020
Sosa AC, Kariuki B, Gan Q, Knutsen AP, Bellone CJ, Guzmán MA, Barrera LA, Tomatsu S, Chauhan AK, Armbrecht E, Montaño AM.   +10 more
europepmc   +1 more source

Dental findings in Morquio syndrome (Mucopolysaccharidoses Type IVa)

, 2000
Morquio syndrome is a disorder of mucopolysaccharide metabolism with specific skeletal features. The clinical and radiographic appearance of the teeth resembles hypoplastic amelogenesis imperfecta with thin enamel of normal radiodensity.
Welbury RR, Welbury, Richard, Barker, D, Barker D, Welbury, RR   +4 more
core  

Long-term outcomes of enzyme replacement therapy from a large cohort of Korean patients with mucopolysaccharidosis IVA (Morquio A syndrome). [PDF]

Mol Genet Metab Rep
Sung J, Kim I, Im M, Ahn YJ, Kim SM, Jang JH, Park HD, Jeon TY, Ko KR, Park SJ, Lee JH, Kim EY, Cheon CK, Kang E, Moon JE, Sohn YB, Lin HY, Chuang CK, Lin SP, Cho SY.   +19 more
europepmc   +1 more source

Morquio A Syndrome: Identification of Differential Patterns of Molecular Pathway Interactions in Bone Lesions. [PDF]

Int J Mol Sci
Álvarez JV, Bravo SB, Chantada-Vázquez MP, Pena C, Colón C, Tomatsu S, Otero-Espinar FJ, Couce ML.   +7 more
europepmc   +1 more source